Results 51 to 60 of about 4,199,245 (250)

THE URGENCY OF GENETIC VERIFICATION OF NON-COMPACTION CARDIOMYOPATHY IN CHILDREN: CLINICAL CASES

Вопросы современной педиатрии, 2018
Background. Non-compaction cardiomyopathy is a group of genetically heterogeneous, poorly studied myocardial diseases with a variety of clinical manifestations (from asymptomatic course to progressive systolic dysfunction with symptoms of chronic heart ...
Nataliya A. Sdvigova, Elena N. Basargina, Dmitry V. Ryabtsev, Kirill V. Savostyanov, Alexander A. Pushkov, Natalia V. Zhurkova, Grigory V. Revunenkov, Olga P. Zharova   +7 more
doaj   +1 more source

DigiChrom: A Domain Ontology for Semantic Representation of Trivalent Chromium Platings and Its Large Language Model‐Based Alignment With Multiple Mid‐Level Ontologies

Advanced Engineering Materials, EarlyView.
Digitalizing electroplating requires both domain knowledge and interoperability. This work introduces PlatOn, a domain ontology for trivalent chromium plating and coating characterization, and a hybrid pipeline that aligns it to a mid‐level reference ontology by combining eight similarity metrics with language model reasoning. Expert‐validated mappings
Janik Harter, Elena Garcia Trelles, Christoph Schweizer, Thomas Seifert, Christoph Baumer, Mahmoud Elkady, Katja Feige, Daniel Grimme, Edgar Hoffmann, Andreas Waibel, Anke Walter   +10 more
wiley   +1 more source

PERFORMING GONADECTOMY IN A 15-YEAR-OLD BULGARIAN GIRL WITH COMPLETE ANDROGEN INSENSITIVITY SYNDROME: A CASE REPORT [PDF]

Journal of IMAB
Complete Androgen Insensitivity Syndrome (CAIS) is a rare genetic Disorder of Sex Development linked to the X chromosome. It occurs due to mutations—either from mother inheritance or arising spontaneously—in the androgen receptor (AR) gene, located in ...
Diana Hristova, Radko Tocev, Krassimir Neykov, Ibryam Ibryam, Sergei Slavov, Smail Smail   +5 more
doaj   +1 more source

Joint QTL linkage mapping for multiple-cross mating design sharing one common parent. [PDF]

PLoS ONE, 2011
BackgroundNested association mapping (NAM) is a novel genetic mating design that combines the advantages of linkage analysis and association mapping. This design provides opportunities to study the inheritance of complex traits, but also requires more ...
Huihui Li, Peter Bradbury, Elhan Ersoz, Edward S Buckler, Jiankang Wang   +4 more
doaj   +1 more source

Adaptive Foam 3D Printing of Ultralight and Multifunctional Materials

Advanced Engineering Materials, EarlyView.
Adaptive foam 3D printing, enabled by expandable microspheres, imparts cellular structures to thermoplastic and thermosetting polymers, manufactured through a variety of processes including fused filament fabrication, direct ink writing, digital light processing, and inkjet printing.
Nariman Rajabifar, Amir Ameli
wiley   +1 more source

Mitochondria‐Targeted Nanotherapies in Aging Neurodegenerative Disorders: Emerging Prospects and Clinical Potential

Advanced Healthcare Materials, EarlyView.
Mitochondria‐targeted nanotherapies emerge as a promising strategy for combating aging‐associated neurodegenerative disorders (NDs) by restoring mitochondrial function, reducing oxidative stress, and improving neuronal survival. Recent advances in nanotechnology, therapeutic delivery, and translational research are highlighted, providing insights into ...
Dnyandev G. Gadhave, Ashish B. Jadhav, Nitin B. Waghamode, Shubham Khot, Rajiya Khan, Ravi Hole, Shankar M. Dhobale, Manoj Aswar, Keshav Raj Paudel   +8 more
wiley   +1 more source

Soft Skins With Reversible Thickness Morphing: Materials, Mechanisms, and Applications

Advanced Materials, EarlyView.
Evolution of electronic skin (e‐skin) technologies toward adaptive, multifunctional soft skins. Phase I highlights early rigid and discrete sensory interfaces. Phase II shows the transition toward flexible, stretchable, and large‐area e‐skin. Phase III captures the emergence of computational e‐skin.
Oliver Ozioko, Chiamaka Akah, Ravinder Dahiya   +2 more
wiley   +1 more source

Swiss Round Selection Algorithm for Multi-Robot Task Scheduling

Applied Sciences
Efficient and stable control and task assignment optimization in electronic commerce logistics and warehousing systems involving multiple robots executing multiple tasks is highly challenging.
Xing Fu, Gongxue Zhang, Hai Yuan, Weijun Wang, Jian Wang, Zucheng Huang   +5 more
doaj   +1 more source

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases

Genome Medicine, 2021
Background Clinical interpretation of genetic variants in the context of the patient’s phenotype is becoming the largest component of cost and time expenditure for genome-based diagnosis of rare genetic diseases.
Francisco M. De La Vega, Shimul Chowdhury, Barry Moore, Erwin Frise, Jeanette McCarthy, Edgar Javier Hernandez, Terence Wong, Kiely James, Lucia Guidugli, Pankaj B. Agrawal, Casie A. Genetti, Catherine A. Brownstein, Alan H. Beggs, Britt-Sabina Löscher, Andre Franke, Braden Boone, Shawn E. Levy, Katrin Õunap, Sander Pajusalu, Matt Huentelman, Keri Ramsey, Marcus Naymik, Vinodh Narayanan, Narayanan Veeraraghavan, Paul Billings, Martin G. Reese, Mark Yandell, Stephen F. Kingsmore   +27 more
doaj   +1 more source

Transient Cytoskeletal Anisotropy Encodes Short‐Term Mechanical Memory in Glioblastoma Cells

Advanced Materials, EarlyView.
The same mechanical deformation can produce distinct cytoskeletal states depending on loading history. Experiments and constitutive modeling reveal that transient actin–vimentin anisotropy stores mechanical information and governs short‐term mechanical memory in glioblastoma cells.
Clara Gomez‐Cruz, Matthieu Gelin, Lucas Pradeau‐Phélut, Arrate Muñoz‐Barrutia, Sandrine Etienne‐Manneville, Daniel Garcia‐Gonzalez   +5 more
wiley   +1 more source